Benign, pathogenic and copy number variations of unknown clinical significance in patients with congenital malformations and developmental delay
The high frequency (3.0-5.0%) of congenital anomalies (CA) and intellectual disabilities (IDs), make them a serious problem, responsible for a high percentage (33.0%) of neonatal mortality. The genetic cause remains unclear in 40.0% of cases. Recently, molecular karyotyping has become the most power...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2017-06-01
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| Series: | Balkan Journal of Medical Genetics |
| Subjects: | |
| Online Access: | http://www.degruyter.com/view/j/bjmg.2017.20.issue-1/bjmg-2017-0010/bjmg-2017-0010.xml?format=INT |